Investigating the genetic causes of Aicardi syndrome
Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome
This study is trying to find out the genetic causes of Aicardi syndrome by looking at blood and skin samples from patients and their parents.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 1 site (Houston, Texas) |
| Trial ID | NCT00697411 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Aicardi syndrome, a neurodevelopmental disorder believed to be linked to genetic changes on the X-chromosome. Researchers are collecting blood and skin biopsy samples from affected patients and their parents to identify specific gene locations associated with the disorder. The methodology includes microarray analysis, mutation analysis through sequencing, genome-wide sequencing, and X chromosome inactivation studies to uncover potential genetic causes. The study aims to enhance understanding of Aicardi syndrome and its genetic underpinnings.
Who should consider this trial
Good fit: Ideal candidates include individuals exhibiting features suggestive of Aicardi syndrome, such as agenesis of the corpus callosum, chorioretinal lacunae, and seizures.
Not a fit: Patients without features suggestive of Aicardi syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and understanding of Aicardi syndrome, potentially guiding future treatments.
How similar studies have performed: While this study explores a specific genetic aspect of Aicardi syndrome, similar genetic investigations in other X-linked disorders have shown promise in identifying causative genes.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Features suggestive of Aicardi syndrome (not all features must be present) * Agenesis of the corpus callosum * Chorioretinal lacunae * Seizures (infantile spasms) Exclusion Criteria: * none
Where this trial is running
Houston, Texas
- Baylor College of Medicine — Houston, Texas, United States (Recruiting)
Study contacts
- Principal investigator: Ignatia B Van den Veyver, MD — Baylor College of Medicine
- Study coordinator: Ignatia Van den Veyver, PMD
- Email: iveyver@bcm.edu
- Phone: 832-824-8125
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.